A rare case of late diagnosis of antiphospholipid syndrome with onset in early childhood

Background. Antiphospholipid syndrome is an autoimmune disease characterized by the presence of circulating antiphospholipid antibodies and thrombotic complications or pregnancy complications.

Objective. The aim of the study was to demonstrate the difficulties of antiphospholipid syndrome diagnosing in children with non-criterial clinical manifestations, without signs of systemic connective tissue pathology at the onset, using a clinical case as an example, and to determine ways to overcome the problem in diagnosing such cases.

Materials and methods. Analysis of the medical record of an inpatient f.003/u, clinical, functional research methods. An analysis of open literary sources on the scientific sites Cyber Leninka, eLibrary, PubMed, Lvrach.ru on the problem of antiphospholipid syndrome, its relationship with rheumatic diseases was conducted. The analysis included literature reviews, scientific articles, clinical studies. Results. The article describes a case of late diagnosis of reliable antiphospholipid syndrome in combination with chronic systemic lupus erythematosus with debut at the age of 1 year with the development of bilateral sensorineural hearing loss of grade 4 in chronological connection with a previous respiratory viral disease. Later, with the addition of focal alopecia with hair loss by the age of thirteen, detection of a false-positive Wasserman reaction, hematological syndrome, livedo reticularis, arthralgia, triple positivity for high-titer antiphospholipid antibodies. Immune markers of systemic lupus erythematosus were also detected in the diagnostic titer. A reliable diagnosis was established 40 years after the onset of the disease, due to the difficulty of diagnosis: non-criterial clinical manifestations of antiphospholipid syndrome. Clinical manifestations and immune markers indicated reliable primary antiphospholipid syndrome.

Conclusion. Currently, efforts are being made to develop new criteria for the classification of APS, a relatively rare disease in pediatric practice, including criteria specific to pediatric patients.

1. Madison J. A., Gockman K., Hoy C., et al. Pediatric antiphospholipid syndrome: clinical features and therapeutic interventions in a single center retrospective case series. Pediatr Rheumatol Online J. 2022; 20 (1): 17. DOI: 10.1186/s12969-022-00677-8.

2. Zhdanova L. V., Shherbakova M. Yu., Reshetnyak T. M. Features of antiphospholipid syndrome in childhood. Vestnik Buryatskogo gosuniversiteta. 2011; 12: 9-11. (In Russ.)

3. Chel` dieva F. A., Reshetnyak T. M., RadenskaLopovok S. G. i dr. Antiphospholipid syndrome and systemic lupus erythematosus: which disease causes organ damage? Nauchnoprakticheskaya revmatologiya. 2020; 58 (2): 225-231. DOI: 10.14412/1995-4484-2020-225-231. (In Russ.)

4. Novik G. A., Kalinina N. M., Abbakumova L. N., Kiknadze K. G. Antiphospholipid syndrome in children. Lechaschi Vrach. 2009; 4: 30-33. (In Russ.)

5. Chel`dieva F. A., Reshetnyak T. M., Shumilova A. A. i dr. The general antiphospholipid syndrome score (GAPSS) in patients with systemic lupus erythematosus. Nauchno-prakticheskaya revmatologiya. 2022; 60 (5): 546-553. https://doi.org/10.47360/1995-4484-2022-546-553. (In Russ.)

6. Barber M. R. W., Drenkard C., Falasinnu T., et al. Global epidemiology of systemic lupus erythematosus. Nat Rev Rheumatol. 2021; 17 (9): 515-532. DOI: 10.1038/s41584-021-00668-1.

7. Solov`ev S. K., Aseeva E. A., Popkova T. V. i dr. Systemic lupus erythematosus: new horizons of diagnosis and therapy. Nauchno-prakticheskaya revmatologiya. 2020; 58 (1): 5-14. (In Russ.)

8. Aringer M., Costenbader K., Daikh D., et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis. 2019; 78 (9): 1151-1159. DOI: 10.1136/annrheumdis-2018-214819.

9. Nasonov E. L. Antiphospholipid syndrome. Moscow: Litterra; 2004. 434 p. (In Russ.)

10. Yazıcı A. Definition and treatment approach of non-criteria clinical manifestations of antiphospholipid syndrome. Eur J Rheumatol. 2020; 7 (4): 180-183.